Treatment of hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII)

Abstract

Background

Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene (HAE-FXII) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. It occurs nearly exclusively in women. We report our experience treating HAE-FXII with discontinuation of potential trigger factors and drug therapies.

Methods

The study included 72 patients with HAE-FXII. Potential triggers included estrogen-containing oral contraceptives (eOC), hormonal replacement therapy, or angiotensin-converting enzyme inhibitors. Drug treatment comprised plasma-derived C1 inhibitor (pdC1-INH) for acute swelling attacks and progestins, tranexamic acid and danazol for prevention of attacks.

Results

Discontinuation of eOC was effective in 25/28 (89.3%) of women and led to a reduction of number of attacks (about 90%). After ending hormonal replacement therapy three of 8 women became symptom-free. Three women with exacerbation of HAE-FXII during intake of quinapril or enalapril had no further HAE-FXII attacks after discontinuation of those drugs. Eleven women were treated with pdC1-INH for 143 facial attacks. The duration of the treated facial attacks (mean 26.6 hrs.; SD 10.1 hrs.) was significantly shorter than that of the previous 88 untreated facial attacks in the same women (mean 64.1 hrs.; SD 28.0 hrs.) (P < 0.01). The mean reduction in attack frequency was 99.8% under progestins after discontinuing eOC (16 women), 93.8% under tranexamic acid (4 women) and 100% under danazol (3 women).

Conclusions

For patients with HAE-FXII various treatment options are available which completely or at least partially reduce the number or duration of attacks.

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